Assurex Health, a personalized medicine company focused on pharmacogenomics for neuropsychiatric disorders, recently announced the publication of a joint clinical study conducted by Assurex and Mayo Clinic which provides additional evidence for the effectiveness of the GeneSight pharmacogenomic test over the current method for selecting psychotropic medications. The study results were published on July 24, 2013 in Pharmacogenetics and Genomics. The primary outcome of the study showed a substantially greater baseline to endpoint decrease in depressive symptoms with higher rates of response and remission in the guided GeneSight group over empiric prescribing, which is the current standard of care. These results reinforce the benefit of GeneSight in providing more objective, evidence-based support for clinicians in selecting medications for patients with psychiatric disorders.

The prospective clinical trial, involving 227 participants divided into pharmacogenomic-guided treatment and treatment-as-usual groups, utilized the GeneSight interpretive report to categorize 26 antidepressants and antipsychotics into color-coded green, yellow, and red “bins” based on each participant’s genetic information and pharmacology of the medications. Significantly greater reductions in symptoms were observed for the GeneSight-guided group using multiple symptom rating scales completed by both clinicians and patients. Participants in the GeneSight-guided group experienced an overall greater than 2-fold improvement in both symptoms and likelihood to achieve remission.

Overall, results with GeneSight-guided treatment were superior to unguided treatment-as-usual. The study showed the ability of GeneSight to identify individuals who are likely to have a favorable outcome with specific pharmacotherapies, supporting the clinical utility of the GeneSight test. A four-fold greater improvement in depressive symptoms was observed in the GeneSight-guided group among participants who entered the study on medications most discordant (red-bin) with their pharmacogenomic profile.

Physicians for nearly 94% of patients in the GeneSight-guided group used the report to either switch participants off medications discordant with their genetics to medications in the green bin or to adjust medication dosages according to the participant’s GeneSight report.

These findings replicate and expand on the magnitude of the effect observed in a previous prospective joint clinical study from Assurex and Mayo Clinic published in Translational Psychiatry (Oct. 2012). This smaller study compared GeneSight-guided prescribing versus treatment-as-usual in adult patients with a primary diagnosis of a major depressive disorder over an 8 week period. Furthermore, a one-year blinded retrospective study of adult patients with a diagnosis of depressive or anxiety disorder published in Translational Psychiatry (Mar. 2013) demonstrated that patients taking discordant red bin medications based on the GeneSight report had substantially higher rates of medical utilization, 3-fold greater medical absence days, and 4-fold greater medical disability claims than patients on non-red bin medications.

“Multiple clinical studies have now demonstrated the clinical validity and clinical utility of our integrated, GeneSight combinatorial pharmacogenomic testing platform,” according to Bryan M. Dechairo, Ph.D., Senior Vice President, Medical Affairs & Clinical Development at Assurex Health. “Prescribing a medication regimen that is more likely to succeed because it is tailored to an individual patient’s genetic profile can help clinicians better manage each patient’s disorder and improve clinical outcomes.”

Almac recently announced they are now offering a Tumor Profiling service running Illumina’s next-generation sequencing (NGS) TruSight Tumor™ panel as part of their biomarker discovery, development and delivery solutions.

Almac, a personalised medicine company with CAP accredited and CLIA certified laboratories, extends their portfolio of services by offering TruSight Tumor™ to complement its current range of RNA, DNA and protein based technologies for biomarker analysis.

Almac is currently running many bespoke diagnostic assays for pharma customers for early phase clinical trial enrichment. The TruSight Tumor™ panel enables additional profiling of these patient samples to provide Almac’s pharma partners with further important information on emerging biomarkers that may also impact drug response.The TruSight Tumor™ panel was developed by Illumina for their MiSeq® system, allowing targeted DNA sequencing and reporting on the mutation status of 26 genes which are most commonly mutated in solid tumors including lung, colon, ovarian, melanoma and gastric cancers.

One of Almac’s key strengths is many years of experience in working with formalin fixed paraffin embedded (FFPE) tissue. The TruSight Tumor™ panel is specifically designed for use with FFPE samples, and enables the highest levels of sensitivity for mutation detection with limited DNA input requirements.

“Almac is committed to the development of personalised medicine through the delivery of a wide range of innovative solutions. We are pleased to announce the expansion of our NGS service to include TruSight Tumor™” said Professor Paul Harkin, President and Managing Director of Almac’s Diagnostic business unit.

Exosome Diagnostics recently announced it has entered into a collaboration agreement with Eli Lilly and Company (NYSE: LLY) for biomarker discovery and validation using Exosome Diagnostics proprietary EXO50 nucleic acid extraction kit. Under the agreement, Lilly will gain early access to Exosome Diagnostics technology to help identify key gene mutations and expression levels in blood that may be correlated with drug response and disease recurrence. Financial terms were not disclosed.

“Exosome Diagnostics technology may provide a unique opportunity to gain insight into the biology of complex conditions such as cancer and immune disorders,” said Andrew Schade, senior medical director, diagnostic and experimental pathology at Lilly. “Exosome technology enables biofluid molecular sampling and the ability to monitor disease progression in real time. As Lilly explores new ways to pursue patient tailoring, we’ll continue to work with partners to expand our capabilities.”

“Accessing high quality messenger and microRNA directly from frozen patient fluid samples offers a rapid, cost-effective route to identify and validate biomarkers, which may be correlated with drug response and disease recurrence,” said James McCullough, chief executive officer of Exosome Diagnostics. “Lilly has accumulated an extensive and well annotated clinical blood sample biobank that provides a unique opportunity to track target biomarkers through the clinical trial process and help overcome the limitations of stored biopsy tissue.”

Exosomes and other microvesicles are secreted by all cells into all biofluids, and provide a natural biological packaging and distribution mechanism for RNA and DNA. Exosome Diagnostics’ rapid exosome isolation and extraction technology produces high-quality RNA and DNA, including full length mRNA and microRNA, from small volumes of patient biofluids, such as blood (serum and plasma), urine and cerebrospinal fluid, for analysis by standard PCR, array and sequencing instruments. Analysis can be performed on fresh or frozen fluid samples, allowing for broad, flexible and convenient analyses of clinical trial samples, both in real-time and retrospectively, with no special preservation methods required. Exosomes and their protected nucleic acid contents are being investigated in a broad range of diseases including cancer, CNS disorders such as Alzheimer’s and Parkinson’s disease, cardiovascular disease, maternal/fetal medicine, and chronic kidney disease, among others. In July, QIAGEN and Exosome Diagnostics signed an agreement for the creation of High-Performance Biofluid Sample Preparation Kits for Personalized Healthcare Research which covers the exclusive supply of these products upon availability in 2014.

Hospital laboratories outside the U.S. can benefit from a continued availability of the B·R·A·H·M·S PCT™ assay on ADVIA Centaur® systems, allowing them to diagnose sepsis early and safely.

Thermo Fisher and Siemens Healthcare Diagnostics renew their non-exclusive, long-term, royalty-bearing agreement for the use of Thermo Fisher’s Procalcitonin (B·R·A·H·M·S PCT™) technology, currently available as an automated immunoassay on the Siemens ADVIA Centaur® XP and CP systems in all countries outside the United States and China. The agreement extends a long-standing relationship between the companies.

The PCT biomarker test is the gold standard for the early detection of sepsis in critically ill patients and is recommended to initiate, monitor and discontinue antibiotic treatment in the presence of relevant bacterial infections. Broader availability of PCT testing will lead to improved hospital management and care of patients with sepsis or at high risk of developing it.

“The continuation of our close collaboration with Siemens significantly increases the global reach of this critical biomarker, making it available to a broader patient population,” said Marc Tremblay, president of Thermo Fisher Scientific’s Clinical Diagnostics division. “The key for preventing sepsis is the early diagnosis of infections. Early diagnosis also reduces the health economic burden of sepsis therapy, a medical condition that is still very common today and accounts for hundreds of thousands of deaths each year. Therefore, PCT supports hospitals in optimizing their service levels and cost effectiveness in today’s challenging economic environment.”

The worldwide number of patients affected by sepsis is estimated to be 20 to 30 million annually and claims more lives than bowel and breast cancer combined. Despite advances in modern medicine, including antibiotics and vaccines, sepsis remains the primary cause of death from infection with hospital mortality rates between 30 to 60%1. Hospital costs to treat severe sepsis in the U.S. are estimated at $16 billion dollars annually. Much of this cost is attributed to misdiagnosis or delayed diagnosis, making rapid, more reliable detection a national, if not global, imperative. Research published in Critical Care Medicine showed that each hour of delay in therapy can decrease chances of patient survival by 7.6 percent.

In recent years, researchers have been frustrated because there are no tools to identify early stages of osteoarthritis and thus no good way to test therapies for preventing or slowing the disease. Now, three institutions have been awarded $1 million from the Arthritis Foundation to validate the use of new MRI (magnetic resonance imaging) techniques and newly identified biomarkers to solve this vexing problem. Hospital for Special Surgery in New York City, University of California-San Francisco (UCSF), and Mayo Clinic in Rochester, Minnesota will share the $1 million.

“There is no magic bullet for treatment of osteoarthritis yet, but once we have a potential oral drug, therapeutic injection, or surgery for treating the disease, we will need a way to identify patients who might need it and follow their response to the treatment,” said Scott Rodeo, M.D., orthopedic surgeon and co-chief of the sports medicine and shoulder service at Hospital for Special Surgery (HSS) and co-principal investigator of the tripartite grant. “Using X-rays to measure joint space narrowing is the gold standard for assessing the presence and progression of osteoarthritis, but X-rays are next to worthless for detecting the early changes of arthritis. This study will help us understand the early factors that lead to the degenerative changes in ACL (anterior cruciate ligament) injured knees.”

Acute ACL injury is a major risk factor for developing osteoarthritis. In the past several years, researchers have discovered that long before osteoarthritic changes in joint space can be detected on X-ray, biochemical changes can be detected in cartilage using newer quantitative MRI techniques. Many studies have also shown that ACL injury is associated with quantifiable changes in biochemical biomarkers that can be detected in synovial fluid (joint fluid), blood, and urine.

The Arthritis Foundation grant will be distributed over one year and then the three grant recipients have made an institutional commitment to provide annual patient follow up after that. Each institution will recruit 25 patients who are at a maximum of 14 days out from tearing their ACL. Patients will be evaluated at baseline, six weeks, six months, 12 months and yearly thereafter with traditional MRI and newer MRI techniques.

Specifically, the new quantitative MRI techniques, developed by researchers at HSS and UCSF, measure T1ρ and T2 values of articular cartilage and the meniscus. Articular cartilage is the smooth cushion that lines the end of the bones where they meet at the joints. The meniscus is a knee structure that spans and cushions the space between the joint surfaces of the thighbone and shinbone. In scientific speak, T1ρ measures proteoglycan depletion, and T2 evaluates abnormal collagen orientation. Proteoglycans are conjugates of proteins and long carbohydrate molecules joined together with sugars.

“Imagine you are playing basketball and you jump up to make a basket, your ability to withstand the load when you come down is a function of proteoglycan,” said Hollis Potter, M.D., chief of the division of magnetic resonance imaging, director of research in the Department of Radiology and Imaging at HSS. “If you pivot and throw the ball to someone else, your ability for your cartilage to withstand that load is a function of the collagen. You need both to be healthy.” Dr. Potter is the HSS site leader of the grant.

At each time point that researchers collect MRI data, they will also collect samples of synovial fluid, blood, and urine from patients and evaluate knee function using surveys such as the Knee Outcome Survey, international knee documentation committee (IKDC) evaluation forms, and Marx Activity Level. These surveys gauge whether a patient has knee impairment; the degree of symptoms such as knee swelling and pain; and how much knee impairment impacts overall well-being, daily living, work, and athletic and social activities. The majority of participants in the study will undergo ACL reconstruction, and surgeons will evaluate these patients arthroscopically at the time of the operation. Clinicians will correlate fluid biomarkers and quantitative MRI results with traditional imaging, clinical, and functional outcomes.

Osteoarthritis is an extremely heterogeneous disorder in terms of the factors that contribute to the loss of joint function. Researchers need to be able to identify where a patient is in the progression of the disease to be able to target specific processes that are responsible for the symptoms and loss of joint function.

“Not everyone who has an ACL tear will develop osteoarthritis, but some do,” said Dr. Rodeo. “The goal is to identify biomarkers that reflect alterations in the joint environment that may be predictive of developing arthritis.” Once these are identified, researchers can test therapies to slow or prevent the disease, which can be crippling and lead to disability.

“There remain many unanswered questions regarding the optimal care of patients with ACL injuries,” said Steven Goldring, M.D., Chief Scientific Officer, St. Giles Chair, Hospital for Special Surgery. “This study is a paradigm of interdisciplinary research that brings together experts in orthopedics, radiology and basic science from multiple leading medical centers with the single goal of developing the most effective therapies to improve outcomes in patients with ACL injuries. The Arthritis Foundation should be congratulated in initiating this groundbreaking program.”

ACL ruptures affect roughly 1 in 3,000 people per year in the United States alone. The cumulative population risk of an ACL injury in people between the ages of 10 and 64 years has been estimated to be 5%, but could be considerably higher. More than 175,000 ACL reconstructions are performed each year in the United States at a cost of $2 billion. Participation in sports that involve pivoting including soccer, basketball, football, and skiing put individuals at higher risk for tearing their ACL.